Page last updated: 2024-11-08

serine and Congenital Hand Deformities

serine has been researched along with Congenital Hand Deformities in 3 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

Research Excerpts

ExcerptRelevanceReference
"[1996: Am J Med Genet 66:138-143] as Pfeiffer syndrome type III with normal thumbs."1.30Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. ( Bartlett, SP; Gripp, KW; Katowitz, JA; Markowitz, RI; McDonald-McGinn, DM; Muenke, M; Stolle, CA; Zackai, EH, 1998)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Oldridge, M1
Lunt, PW1
Zackai, EH2
McDonald-McGinn, DM2
Muenke, M2
Moloney, DM1
Twigg, SR1
Heath, JK1
Howard, TD1
Hoganson, G1
Gagnon, DM1
Jabs, EW1
Wilkie, AO1
Gripp, KW1
Stolle, CA1
Markowitz, RI1
Bartlett, SP1
Katowitz, JA1
Passos-Bueno, MR1
Richieri-Costa, A1
SertiƩ, AL1
Kneppers, A1

Other Studies

3 other studies available for serine and Congenital Hand Deformities

ArticleYear
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
    Human molecular genetics, 1997, Volume: 6, Issue:1

    Topics: Adult; Child; Craniosynostoses; Dipeptides; Female; Foot Deformities, Congenital; Genotype; Hand Def

1997
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
    American journal of medical genetics, 1998, Jul-24, Volume: 78, Issue:4

    Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Amino Acid Substitution; Cysteine; Elbow; Eye Abnor

1998
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
    Journal of medical genetics, 1998, Volume: 35, Issue:8

    Topics: Acrocephalosyndactylia; Child, Preschool; Foot Deformities, Congenital; Hand Deformities, Congenital

1998